NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)
|
rs145372387
|
0.00005
|
NM_000312.4(PROC):c.226G>A (p.Val76Met)
|
rs121918149
|
0.00003
|
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)
|
rs764971634
|
0.00002
|
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)
|
rs1048241141
|
0.00001
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)
|
rs116004018
|
0.00001
|
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)
|
rs752764598
|
0.00001
|
46;XX;t(1;5)(p31;q33)dn
|
|
|
Multiple alleles
|
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
|
|
|
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)
|
rs1897876766
|
|
NM_000021.4(PSEN1):c.338+7A>G
|
rs1897878139
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)
|
rs63750353
|
|
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
|
|
|
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)
|
rs267606983
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
|
|
|
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)
|
rs199723282
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)
|
rs1575446166
|
|
NM_000817.3(GAD1):c.548-2A>C
|
|
|
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)
|
rs199801114
|
|
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter)
|
rs1008881855
|
|
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter)
|
rs2154199961
|
|
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg)
|
rs2139187274
|
|
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg)
|
rs2139537197
|
|
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg)
|
rs2139538791
|
|
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)
|
rs2139552522
|
|
NM_001846.4(COL4A2):c.957+2T>C
|
rs1013146465
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)
|
rs767399782
|
|
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter)
|
rs1060501925
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter)
|
rs2149876234
|
|
NM_017721.5(CC2D1A):c.378+137_1641+1157del
|
|
|
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs)
|
rs2147944830
|
|
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs)
|
rs2107644554
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)
|
rs1644248738
|
|
NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg)
|
rs1042821596
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|